Shohat M, Flaum E, Cobb S R, Lachman R, Rubin C, Ash C, Rimoin D L
Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
Am J Med Genet. 1993 Mar 1;45(5):548-51. doi: 10.1002/ajmg.1320450504.
Characteristic temporal bone changes have recently been defined by high resolution CT in nine patients with achondroplasia (Cobb et al., Am J Neuroradiol 9:1195, 1988). These included narrowing of the skull base and "towering" petrous ridges resulting in abnormal orientation of the inner and middle ear structures. In order to determine whether these morphologic changes are the cause of the hearing deficit in achondroplasia, audiometric studies and ENT evaluation were performed in eight of the nine patients. All had a history of frequent otitis media and four had experienced tympanic membrane tube insertion. Three patients had significant sensorineural hearing loss, two had conductive hearing loss and one patient had combined hearing loss. None of the temporal bone morphologic changes were found to be correlated with the degree of either sensorineural or conductive hearing loss. Fusion of the ossicular chain was not present in any of our cases. Appropriate treatment of frequent acute otitis media and early awareness of middle ear effusions and conductive hearing loss in children with achondroplasia may be of great importance in preventing permanent hearing loss.
最近，高分辨率CT已明确了9例软骨发育不全患者颞骨的特征性改变（Cobb等人，《美国神经放射学杂志》9:1195，1988年）。这些改变包括颅底变窄和岩嵴“高耸”，导致内耳和中耳结构方向异常。为了确定这些形态学改变是否是软骨发育不全患者听力减退的原因，对9例患者中的8例进行了听力测定研究和耳鼻喉科评估。所有患者均有中耳炎反复发作史，4例曾行鼓膜置管术。3例患者有明显的感音神经性听力损失，2例有传导性听力损失，1例患者有混合性听力损失。未发现颞骨形态学改变与感音神经性或传导性听力损失程度相关。我们所有病例均未出现听骨链融合。对软骨发育不全患儿频繁发生的急性中耳炎进行适当治疗，并尽早发现中耳积液和传导性听力损失，对于预防永久性听力损失可能非常重要。
